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Article

Severe HDL deficiency due to novel defects in the ABCA1 transporter

9 Feb 2009

Abstract excerpt

OBJECTIVES: The objective was the identification and functional characterization of mutations in the ABCA1 gene in four patients with severe HDL deficiency. SUBJECTS: Patients were referred to the clinic because of almost complete HDL deficiency. METHODS: The ABCA1 gene was sequenced directly. The analysis of the ABCA1 protein, ABCA1 mRNA and ABCA1-mediated cholesterol efflux was performed in cultured...

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PMID: 19019193
DOI: 10.1111/j.1365-2796.2008.02019.x

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